Do you want to know whether you are carrying a genetic mutation? Genetic testing allows you to do that, and much more.
Infants undergo newborn screening tests to diagnose genetic disorders right after birth. Diagnostic testing, though not possible for all genetic disorders, can confirm or rule out a diagnosis of a specific medical condition. Couples who are planning to have children can go through carrier testing to determine if one or both of them are a carrier of a specific condition that they can pass on to their future children. Prenatal testing identifies abnormalities even before the baby is born. Forensic testing, on the other hand, is very useful in identifying criminals. There is also pre-implantation testing that identifies changes in the embryo when fertilization techniques have been used; and predictive and pre-symptomatic testing that identifies genetic changes when disorders are suspected.
“Genetic testing determines genetic mutations that you are carrying, which can cause a medical condition. The results are very useful in assessing your risk of developing an inherited disorder or passing on a disorder on to your children. It can also check if you have abnormalities at the present,” says Jeffrey J. Seitz, founder of PHIX Genomics Inc.
The testing is done by taking and analyzing a blood sample (or samples of hair, skin, or amniotic fluid). The sample is then analyzed in a laboratory with highly-trained technicians who look for the presence of specific genes or mutations. Genetic testing is useful if a condition is known to be caused by a specific genetic mutation or abnormality, such as breast or colon cancer, Alzheimer’s disease, spinal muscular atrophy, cystic fibrosis, or sickle cell disease.
Genetic test results help doctors understand a patient’s disease condition better so that they can make more informed decisions in planning and personalizing treatments. Genetic test results can also help some people decide on whether or not to have children based on their genetic information.
Of course, there are risks and limitation involved in genetic testing. Genetic discrimination is real. People are being discriminated against based on their genetic condition or mutation, specifically when they are looking for work or want to get insurance. Any kind of discrimination is illegal, but it happens. Knowing the test results has implications for the individual and his/her family. And although genetic testing allows us to understand disease conditions better and enables doctors to personalize treatment, it cannot provide all the necessary information about a condition. “Consultation with our genetic counselors following genetic testing is very important to understand these implications and an integral part of the services that we (PHIX Genomics) offer” says Mr. Seitz.
“Overall, the advantages of genetic testing outweigh the disadvantages. Non-carrier genetic test results will bring a sigh of relief for the fortunate individual. On the other hand, confirmatory carrier genetic test results will arm the less fortunate individual with knowledge to prepare, to seek further advice, or even to undergo preventive procedures,” adds Seitz, vice president of D-MARK Biosciences, Canada’s premier provider of advanced solutions for genomics and molecular biology. He is determined to bring the benefits of Genomics to the Philippines.
PHIX Genomics is a pioneer in the Philippines, focused on clinical genomic diagnostics. It is the first commercial company that will establish a clinical lab and develop the very first Filipino-specific genome database. Seitz sees PHIX Genomics as having significant beneficial impact on the health and prosperity of Filipinos.
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